N21D (p.Asn21Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
N21D (p.Asn21Asp) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N21D (p.Asn21Asp) variant details
- p.Asn21Asp
- rs1223476490
- ClinGen CA346734569
- ClinVar RCV000575294
- ClinVar RCV000689038
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.12
- MetaLR 0.35
- MetaSVM -0.80
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Lynch Syndrome. (PMID 20301390)